Acromegaly is a rare, chronic, progressive disease characterized by an excess secretion of growth hormone (GH) and increased circulating insulin-like growth factor 1 (IGF-1) concentrations. It is caused, in most cases, by pituitary adenomas that interfere with normal pituitary function. The clinical diagnosis, based on symptoms related to GH excess, is often delayed due to the gradual and subtle nature of the disease. Consequently, patients often have established systemic complications at diagnosis with increased morbidity and premature mortality.
Our three key opinion leaders who specialize in acromegaly will discuss three patient cases covering the consequences of a delayed diagnosis including strategies for a proper evaluation to avoid a misdiagnosis, address management strategies that can impact overall patient outcomes, and provide an in-depth look at the latest clinical evidence in the acromegaly treatment landscape.
Our expert panel will discuss symptoms indicative of Fabry Disease across the life cycle from infancy to advanced age. Participants will benefit from expert instruction in the art of early diagnosis, review practical methods to navigate challenges, and integrate therapies into management plans to produce clinically meaningful improvements in patient outcomes. The last 5 minutes includes a discussion between both presenters to further enhance learning.
Join us for highlights from the American College of Medical Genetics and Genomics Annual Meeting! Patients with acute porphyrias, characterized by an enzymatic defect in the heme biosynthetic pathway, often present with debilitating, life-threatening attacks. To improve an understanding of AHP and to better differentiate from other disorders that mimic symptoms associated with AHP, a broad differential diagnosis of the main acute presentations of acute porphyrias (including abdominal pain, neuropathy, psychosis) will be reviewed, including other diseases with similar signs such as Guillain-Barre Syndrome and Multiple Sclerosis. Disorders that do have real porphyria-like attacks as a manifestation (i.e., tyrosinemia, lead poisoning) will be addressed, with recommended strategies to personalize patient treatment.
Highlights from the Pediatric Academic Society Annual Meeting in Toronto reviewing the reasoning behind newborn screening (NBS). Several real patient cases will be discussed where NBS identified the treatable rare disorder, as well as others that were not initially identified by NBS. Strategies on how to better identify these potential disorders will be reviewed.
Acute hepatic porphyrias (AHP) symptoms often resemble other diseases in the gastrointestinal, gynecological, and neurological areas and are characterized by intensely painful attacks that can be life-threatening if incorrectly diagnosed. When correctly diagnosed, treatment may vary among clinicians who manage patients with these disorders. To close these practice gaps, join us for hightlights from the the Society for Inherited Metabolic Disorders Annual Meeting as our faculty of AHP experts discuss treatment strategies and provide recommendations using real patient cases seen in clinical practice.
Generalized Arterial Calcification of Infancy (GACI) is a rare mineralization disorder caused by mutations in the ENPP1 or ABCC6 genes, affecting the circulatory system in addition to other body systems. Those individuals who survive into adulthood often have side effects of the disease, including Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2). Monoallelic Heterozygous ENPP1 Deficiency affects the ability to regulate calcium and phosphate levels leading to decreased inorganic pyrophosphate (PPi), and to increased calcium deposition in the vessel wall. Another clinical phenotype of ENPP1 Deficiency includes Ossification of the Posterior Longitudinal Ligament (OPLL), which may also be associated with hypophosphatemic rickets, and other skeletal conditions.
Highlights from the 2024 ASBMR satellite symposium will be offered soon as an on-demand webinar, where experts will review clinical phenotypes of ENPP1 deficiency including GACI, ARHR2, OPPL and others by providing guidance for treatment initiation, ending with a discussion of emerging treatment options, to enhance the clinician’s confidence in managing patients with these disorders.
Hypophosphatasia (HPP) is a progressive, debilitating and sometimes fatal metabolic bone disease caused by loss of function mutations in the ALPL gene. Its clinical manifestations and severity of symptoms vary widely from patient to patient.
A multinational consortium of key opinion leaders, who are world specialists in hypophosphatasia (HPP), convened virtually during the past couple of years to recommend criteria for the diagnosis of HPP in children and adults, given that there are no formal diagnostic guidelines HPP.
Our two presenters are co-authors of the Proposed Criteria and will offer a review of the criteria including the measurable factors or parameters used to determine them, consensus recommendations for clinical practice, and appropriate treatment. By providing practical information and tools to help healthcare professionals better understand the diagnostic process, patients can be diagnosed earlier and experience better disease management and quality of life.
X-linked hypophosphatemia (XLH) is the most common cause of inherited phosphate wasting and is associated with severe complications resulting from unresolved childhood symptoms, including disease progression. Diagnosis and specific treatment are frequently delayed leading to poorer patient outcomes.
This on-demand CME webinar will review the latest new global guidelines presented by three of the authors, including the Chair, based on GRADE methodology, and endorsed by several global organizations including the ASBMR and the Endocrine Society. The presenters will offer a review of the final guidelines for clinical practice, namely strategies for early diagnosis and management, including a narrative on who and how to treat, assessing patient complications and ongoing monitoring, and closing with a review of available and emerging therapeutic options to improve treatment selection.
This CME presentation was held as a satellite symposium at the 2025 Society of Hospital Medicine (SHM) Annual Converge Meeting.
Patients with certain inherited metabolic disorders often arrive in the emergency room/ hospital setting with porphyria-like attacks. To improve an understanding of AHP (acute hepatic porphyria) and to better differentiate it from other disorders that mimic symptoms associated with AHP, a broad differential diagnosis of the main acute presentations of acute porphyrias (including severe abdominal pain, extensive neuropathy issues, disabling respiratory symptoms, tachycardia, vomiting, and more) will be reviewed. Patient cases covering these neurovisceral acute attacks, with recommended strategies to for immediate patient treatment will be included.
Once you register for free on SHM's website, you will be able to view the presentation and claim CME credit.
Primary biliary cholangitis (PBC) is an autoimmune disorder leading to progressive damage to intrahepatic bile ducts resulting in portal and periportal inflammation, cholestasis, and fibrosis and may ultimately lead to cirrhosis and portal hypertension. Join us for an interactive discussion among 3 KOLs as they evaluate real patient cases and provide information for treating and managing patients with this disorder.
Nephropathic cystinosis is a rare genetic disorder that can cause ocular manifestations, kidney decline, small stature, muscle wasting, frequent thirst, and other symptoms. Join us for an exciting complimentary webinar as our expert panel provides an overview of the disorder , including an assessment of telltale signs and symptoms indicative of ocular cystinosis that manifest as a deposition of cystine crystals in the cornea, as well as kidney decline, small stature, muscle wasting, frequent thirst, as well as other symptoms. Optimal management approaches of evidence-based treatments will be reviewed using sample patient cases.